Canonical Allele Identifier: CA6780138

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109793529del , CM000674.2:g.109793529del	GRCh38
NC_000012.11:g.110231334del , CM000674.1:g.110231334del	GRCh37
NC_000012.10:g.108715717del	NCBI36
NG_017090.1:g.44879del , LRG_372:g.44879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1656del MANE Select	ENSP00000261740.2:p.Tyr553ThrfsTer8
ENST00000418703.7:c.1656del	ENSP00000406191.2:p.Tyr553ThrfsTer8
ENST00000674908.1:c.*743del	ENSP00000502012.1:n.*743del
ENST00000675533.1:n.1687del
ENST00000675670.1:c.1656del	ENSP00000502135.1:p.Tyr553ThrfsTer8
ENST00000676376.1:n.1687del
ENST00000261740.6:c.1656del	ENSP00000261740.2:p.Tyr553ThrfsTer8
ENST00000418703.6:c.1656del	ENSP00000406191.2:p.Tyr553ThrfsTer8
ENST00000536838.1:c.1554del	ENSP00000444336.1:p.Tyr519ThrfsTer8
ENST00000537083.5:c.1476del	ENSP00000442738.1:p.Tyr493ThrfsTer8
ENST00000538125.5:c.1656del	ENSP00000437449.1:p.Ter553SerextTer3
ENST00000541794.5:c.1515del	ENSP00000442167.1:p.Tyr506ThrfsTer8
ENST00000544971.5:c.1335del	ENSP00000443611.1:p.Tyr446ThrfsTer8
NM_001177428.1:c.1515del	NP_001170899.1:p.Tyr506ThrfsTer8
NM_001177431.1:c.1554del	NP_001170902.1:p.Tyr519ThrfsTer8
NM_001177433.1:c.1335del	NP_001170904.1:p.Tyr446ThrfsTer8
NM_021625.4:c.1656del , LRG_372t1:c.1656del	NP_067638.3:p.Tyr553ThrfsTer8
NM_147204.2:c.1476del	NP_671737.1:p.Tyr493ThrfsTer8
XM_005253918.1:c.1656del	XP_005253975.1:p.Tyr553ThrfsTer8
XM_011538630.1:c.1656del	XP_011536932.1:p.Tyr553ThrfsTer8
XM_011538631.1:c.1515del	XP_011536933.1:p.Tyr506ThrfsTer8
XM_011538632.1:c.1476del	XP_011536934.1:p.Tyr493ThrfsTer8
XM_011538633.1:c.1335del	XP_011536935.1:p.Tyr446ThrfsTer8
XM_011538634.1:c.1656del	XP_011536936.1:p.Tyr553ThrfsTer8
XM_011538635.1:c.1809del	XP_011536937.1:p.Tyr604ThrfsTer8
XM_011538636.1:c.1809del	XP_011536938.1:p.Ter604ArgextTer?
XM_011538630.2:c.1809del	XP_011536932.2:p.Tyr604ThrfsTer8
XM_011538631.2:c.1668del	XP_011536933.2:p.Tyr557ThrfsTer8
XM_011538632.2:c.1629del	XP_011536934.2:p.Tyr544ThrfsTer8
XM_011538633.2:c.1488del	XP_011536935.2:p.Tyr497ThrfsTer8
XM_011538634.2:c.1809del	XP_011536936.2:p.Tyr604ThrfsTer8
XM_011538635.2:c.1809del	XP_011536937.1:p.Tyr604ThrfsTer8
XM_017019774.1:c.1656del	XP_016875263.1:p.Tyr553ThrfsTer8
NM_021625.5:c.1656del MANE Select	NP_067638.3:p.Tyr553ThrfsTer8